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    NAALADL2 N-acetylated alpha-linked acidic dipeptidase like 2 [ Homo sapiens (human) ]

    Gene ID: 254827, updated on 4-Jan-2025

    Summary

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    Official Symbol
    NAALADL2provided by HGNC
    Official Full Name
    N-acetylated alpha-linked acidic dipeptidase like 2provided by HGNC
    Primary source
    HGNC:HGNC:23219
    See related
    Ensembl:ENSG00000177694 MIM:608806; AllianceGenome:HGNC:23219
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to act upstream of or within response to bacterium. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in prostate (RPKM 1.4), gall bladder (RPKM 1.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAALADL2 in Genome Data Viewer
    Location:
    3q26.31
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (174440982..175810548)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (177225521..178605522)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (174577124..175528336)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:174130757-174131368 Neighboring gene uncharacterized LOC105374226 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:174156710-174157909 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:174158538-174159189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:174218495-174218996 Neighboring gene ribosomal protein L8 pseudogene 4 Neighboring gene NANOG hESC enhancer GRCh37_chr3:174255942-174256889 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:174258235-174258749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:174323251-174323751 Neighboring gene RN7SK pseudogene 40 Neighboring gene uncharacterized LOC107986027 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:174769760-174770554 Neighboring gene uncharacterized LOC124906305 Neighboring gene NAALADL2 antisense RNA 3 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 8 Neighboring gene Sharpr-MPRA regulatory region 14988 Neighboring gene NAALADL2 antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20834 Neighboring gene RNA, U6 small nuclear 1233, pseudogene Neighboring gene microRNA 4789 Neighboring gene RNA, U4 small nuclear 91, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_66754 Neighboring gene small nucleolar RNA U13 Neighboring gene NAALADL2 antisense RNA 1 Neighboring gene DDX5 pseudogene 1 Neighboring gene UBE2V1 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1317, pseudogene Neighboring gene uncharacterized LOC124909459 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:175540382-175540932 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:175552923-175553428 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:175623336-175623892 Neighboring gene actin gamma 1 pseudogene 23

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3. Tonkin ET, et al. Hum Genet, 2004 Jul. PMID 15168106, Free PMC Article
    2. N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 is overexpressed in cancer and promotes a pro-migratory and pro-metastatic phenotype. Whitaker HC, et al. Oncogene, 2014 Nov 6. PMID 24240687
    3. Identification of genetic susceptibility loci for intestinal Behçet's disease. Kim SW, et al. Sci Rep, 2017 Jan 3. PMID 28045058, Free PMC Article
    4. Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability. Millson A, et al. Am J Med Genet A, 2012 Jan. PMID 22106001
    5. A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease. Burgner D, et al. PLoS Genet, 2009 Jan. PMID 19132087, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GWAS showed intestinal Behcet's disease-specific associations with YIPF7 gene locus rs6838327. Down-regulation of YIPF7 expression was associated with exacerbating intestinal inflammatory responses both in vitro and in vivo.
      Title: Identification of genetic susceptibility loci for intestinal Behçet's disease.
    2. Data suggest that changes in expression of N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 (NAALADL2) can impact upon a number of pro-oncogenic pathways and processes, making it a useful biomarker for both diagnosis and prognosis.
      Title: N-acetyl-L-aspartyl-L-glutamate peptidase-like 2 is overexpressed in cancer and promotes a pro-migratory and pro-metastatic phenotype.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2016-01-07)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2016-01-07)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies novel and functionally related susceptibility Loci for Kawasaki disease.
    EBI GWAS Catalog
    A genome-wide association study of sleep habits and insomnia.
    EBI GWAS Catalog
    A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
    EBI GWAS Catalog
    Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
    EBI GWAS Catalog
    Genome-wide association study in Han Chinese identifies three novel loci for human height.
    EBI GWAS Catalog
    Genome-wide association study of bipolar disorder accounting for effect of body mass index identifies a new risk allele in TCF7L2.
    EBI GWAS Catalog
    Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in response to bacterium  
    Component Evidence Code Pubs
    located_in membrane  
    located_in nucleoplasm  

    General protein information

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    Preferred Names
    inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2
    Names
    N-acetylated alpha-linked acidic dipeptidase 2
    NAALADase L2
    glutamate carboxypeptidase II-type non-peptidase homologue
    NP_996898.2
    XP_006713623.1
    XP_011510914.1
    XP_011510915.1
    XP_011510917.1
    XP_011510918.1
    XP_011510919.1
    XP_016861560.1
    XP_016861562.1
    XP_016861563.1
    XP_016861564.1
    XP_016861565.1
    XP_016861566.1
    XP_016861567.1
    XP_016861569.1
    XP_016861570.1
    XP_016861572.1
    XP_047303832.1
    XP_047303833.1
    XP_047303834.1
    XP_047303835.1
    XP_047303836.1
    XP_047303837.1
    XP_054201937.1
    XP_054201938.1
    XP_054201939.1
    XP_054201940.1
    XP_054201941.1
    XP_054201942.1
    XP_054201943.1
    XP_054201944.1
    XP_054201945.1
    XP_054201946.1
    XP_054201947.1
    XP_054201948.1
    XP_054201949.1
    XP_054201950.1
    XP_054201951.1
    XP_054201952.1
    XP_054201953.1
    XP_054201954.1
    XP_054201955.1
    XP_054201956.1
    XP_054201957.1
    XP_054201958.1
    XP_054201959.1
    XP_054201960.1
    XP_054201961.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_207015.3 → NP_996898.2  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2

      See identical proteins and their annotated locations for NP_996898.2

      Status: VALIDATED

      Source sequence(s)
      AC008180, AC083804, AC104150, AC119040, AJ607396, AL832144
      Consensus CDS
      CCDS46960.1
      UniProtKB/Swiss-Prot
      Q58DX5, Q658X9, Q6H9J8, Q6H9J9, Q6PG38
      Related
      ENSP00000404705.1, ENST00000454872.6
      Conserved Domains (3) summary
      pfam04253
      Location:676 → 734
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:258 → 410
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:427 → 649
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      174440982..175810548
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006077.3 → XP_016861566.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

      Conserved Domains (3) summary
      pfam04253
      Location:659 → 717
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:241 → 393
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:410 → 632
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    2. XM_047447876.1 → XP_047303832.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    3. XM_017006075.3 → XP_016861564.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

      Conserved Domains (3) summary
      pfam04253
      Location:659 → 717
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:241 → 393
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:410 → 632
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    4. XM_017006078.3 → XP_016861567.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

      Conserved Domains (3) summary
      pfam04253
      Location:659 → 717
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:241 → 393
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:410 → 632
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    5. XM_047447877.1 → XP_047303833.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    6. XM_006713560.4 → XP_006713623.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

      See identical proteins and their annotated locations for XP_006713623.1

      Conserved Domains (3) summary
      pfam04253
      Location:659 → 717
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:241 → 393
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:410 → 632
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    7. XM_017006080.3 → XP_016861569.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

      Conserved Domains (3) summary
      pfam04253
      Location:659 → 717
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:241 → 393
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:410 → 632
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    8. XM_017006074.3 → XP_016861563.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

      Conserved Domains (3) summary
      pfam04253
      Location:659 → 717
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:241 → 393
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:410 → 632
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    9. XM_017006071.2 → XP_016861560.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

      Conserved Domains (3) summary
      pfam04253
      Location:659 → 717
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:241 → 393
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:410 → 632
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    10. XM_017006073.2 → XP_016861562.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

      Conserved Domains (3) summary
      pfam04253
      Location:659 → 717
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:241 → 393
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:410 → 632
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    11. XM_017006076.2 → XP_016861565.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

      Conserved Domains (3) summary
      pfam04253
      Location:659 → 717
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:241 → 393
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:410 → 632
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    12. XM_011512613.3 → XP_011510915.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X2

      Conserved Domains (3) summary
      pfam04253
      Location:669 → 727
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:251 → 403
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:420 → 642
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    13. XM_047447880.1 → XP_047303836.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X7

    14. XM_047447878.1 → XP_047303834.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    15. XM_047447879.1 → XP_047303835.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X6

    16. XM_047447881.1 → XP_047303837.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X11

    17. XM_011512612.4 → XP_011510914.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X1

      Conserved Domains (3) summary
      pfam04253
      Location:686 → 744
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:268 → 420
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:437 → 659
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    18. XM_017006081.3 → XP_016861570.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X5

    19. XM_011512615.4 → XP_011510917.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X4

      Conserved Domains (3) summary
      pfam04253
      Location:638 → 696
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:268 → 374
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:389 → 611
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    20. XM_011512617.4 → XP_011510919.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X9

      Conserved Domains (2) summary
      cl10459
      Location:268 → 420
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:437 → 603
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    21. XM_017006083.2 → XP_016861572.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X10

    22. XM_011512616.3 → XP_011510918.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X8

      Conserved Domains (3) summary
      pfam04253
      Location:503 → 561
      TFR_dimer; Transferrin receptor-like dimerization domain
      cl10459
      Location:85 → 237
      Peptidases_S8_S53; Peptidase domain in the S8 and S53 families
      cl14876
      Location:254 → 476
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805489.1 Reference GRCh38.p14 PATCHES

      Range
      120740..145274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      177225521..178605522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345972.1 → XP_054201947.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    2. XM_054345965.1 → XP_054201940.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    3. XM_054345966.1 → XP_054201941.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    4. XM_054345973.1 → XP_054201948.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    5. XM_054345976.1 → XP_054201951.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    6. XM_054345974.1 → XP_054201949.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    7. XM_054345977.1 → XP_054201952.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    8. XM_054345971.1 → XP_054201946.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    9. XM_054345970.1 → XP_054201945.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    10. XM_054345968.1 → XP_054201943.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    11. XM_054345967.1 → XP_054201942.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    12. XM_054345969.1 → XP_054201944.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    13. XM_054345975.1 → XP_054201950.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    14. XM_054345982.1 → XP_054201957.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X7

    15. XM_054345964.1 → XP_054201939.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X2

    16. XM_054345985.1 → XP_054201960.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X11

    17. XM_054345978.1 → XP_054201953.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X3

    18. XM_054345981.1 → XP_054201956.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X6

    19. XM_054345962.1 → XP_054201937.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X1

    20. XM_054345980.1 → XP_054201955.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X5

    21. XM_054345979.1 → XP_054201954.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X4

    22. XM_054345984.1 → XP_054201959.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X9

    23. XM_054345963.1 → XP_054201938.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X12

    24. XM_054345986.1 → XP_054201961.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X13

    25. XM_054345983.1 → XP_054201958.1  inactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2 isoform X8

    Protein Accession Links
    GenPept Link UniProtKB Link
    Q58DX5.3 GenPept UniProtKB/Swiss-Prot:Q58DX5

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